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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UFH2: Variant p.Leu3595Pro

Dynein axonemal heavy chain 17
Gene: DNAH17
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Variant information Variant position: help 3595 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Leucine (L) to Proline (P) at position 3595 (L3595P, p.Leu3595Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In SPGF39; when associated in cis with L-3499; not expressed in flagellum and loss of the outer dynein arms in sperm cells when associated in cis with L-3499. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 3595 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 4462 The length of the canonical sequence.
Location on the sequence: help EQLKANLTKSQNEFKIVLKE L EDSLLARLSAASGNFLGDTA The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         EQLKANLTKSQNEFKIVLKELEDSLLARLSAASGNFLGDTA

Mouse                         EQLKANLTKSQNEFKIVLKELEDSLLARLSAASGNFLGDTA
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 1 – 4462 Dynein axonemal heavy chain 17
Region 3405 – 3632 AAA 5
Alternative sequence 865 – 4462 Missing. In isoform 4.



Literature citations
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Whitfield M.; Thomas L.; Bequignon E.; Schmitt A.; Stouvenel L.; Montantin G.; Tissier S.; Duquesnoy P.; Copin B.; Chantot S.; Dastot F.; Faucon C.; Barbotin A.L.; Loyens A.; Siffroi J.P.; Papon J.F.; Escudier E.; Amselem S.; Mitchell V.; Toure A.; Legendre M.;
Am. J. Hum. Genet. 105:198-212(2019)
Cited for: INVOLVEMENT IN SPGF39; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANTS SPGF39 431-TYR--VAL-4462 DEL; TYR-1829; LEU-ASP-PRO-VAL-3496 INS; LEU-3499 AND PRO-3595; CHARACTERIZATION OF VARIANTS SPGF39 TYR-1829; LEU-ASP-PRO-VAL-3496 INS; LEU-3499 AND PRO-3595; DEVELOPMENTAL STAGE;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.